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Gene: Eif2ak2 MGI:1353449

Gene Summary

Name:

eukaryotic translation initiation factor 2-alpha kinase 2

Synonyms:

dsRNA-activated kinase, Tik, 4732414G15Rik, Prkr, Pkr, 2310047A08Rik, IFN-induced and double-stranded RNA-activated kinase, IFN- type I-induced and dsRNA-activated kinase, eIF-2 alpha

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IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal spleen morphology	Eif2ak2^em1(IMPC)Mbp	HOM	Early adult	0.00
small spleen	Eif2ak2^em1(IMPC)Mbp	HOM	Early adult	0.00
increased circulating creatinine level	Eif2ak2^em1(IMPC)Mbp	HOM	Early adult	6.93×10^-05
increased circulating serum albumin level	Eif2ak2^em1(IMPC)Mbp	HOM	Early adult	3.75×10^-05
increased circulating calcium level	Eif2ak2^em1(IMPC)Mbp	HOM	Early adult	3.78×10^-06

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

7 Images

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X-ray

XRay Images Whole Body Dorso Ventral

21 Images

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Human diseases caused by Eif2ak2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Eif2ak2 (3 diseases)
Human diseases predicted to be associated with Eif2ak2 (381 diseases)

The table below shows human diseases associated to Eif2ak2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Early-Onset Generalized Limb-Onset Dystonia			ORPHA:256
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome			OMIM:618877
Dystonia 33			OMIM:619687

The table below shows human diseases predicted to be associated to Eif2ak2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Monocyte Chemotactic Disorder	Chronic mucocutaneous candidiasis, Cutaneous anergy	OMIM:252250
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology, Recurrent viral infections, Recurrent protozoan infections, Rec...	OMIM:308220
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Adamantinoma	Hypercalcemia	ORPHA:55881
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia, T lymphocytopenia	DECIPHER:16
Granulomatous Slack Skin	Hypercalcemia, Abnormal lymph node morphology	ORPHA:33111
Candidiasis, Familial, 1	Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections	OMIM:114580
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Increased total...	OMIM:619868
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Hypocalcemia, Autosomal Dominant 2	Hypocalcemia, Abnormal blood phosphate concentration	OMIM:615361
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ...	OMIM:619658
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:618883
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Progressive Familial Intrahepatic Cholestasis	Jaundice, Hepatomegaly, Hypocalcemia, Cholestasis, Splenomegaly	ORPHA:172
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Recurrent Klebsiella infections, Recurrent candida infections, BCGosis, Salmonella osteomyelitis,...	ORPHA:319552
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Splenomegaly	ORPHA:100025
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia, Anemia	ORPHA:2668
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Recurrent otitis media, Increased circulating interleukin 6 concentration, Increased circulating ...	OMIM:618944
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Diarrhea 13	Hypoalbuminemia, Hepatic steatosis	OMIM:620357
Diffuse Neonatal Hemangiomatosis	Hypercalcemia, Thrombocytopenia, Hepatomegaly, Anemia	ORPHA:2123
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hepatosplenomegaly, Splen...	OMIM:612526
Rhabdoid Tumor	Anemia, Lymphadenopathy, Thrombocytopenia, Hypercalcemia, Neoplasm of the liver	ORPHA:69077
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Decreased hepatic echogenicity, Increased circulating creatine kinase MM isoform...	OMIM:613752
Immunodeficiency 115 With Autoinflammation	Intestinal lymphangiectasia, Anemia, Elevated circulating C-reactive protein concentration, Eleva...	OMIM:620632
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Pseudohypoparathyroidism, Type Ii	Hypocalcemia, Hyperphosphatemia	OMIM:203330
Immunodeficiency 11A	Recurrent respiratory infections, Decreased circulating antibody level, Agammaglobulinemia, Reduc...	OMIM:615206
Immunodeficiency 27A	Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hypoalbu...	OMIM:209950
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Immunodeficiency 66	Defective T cell proliferation, Sepsis, Pustule, Recurrent skin infections, Meningitis	OMIM:618847
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Caspase 8 Deficiency	Reduced CD95-induced lymphocyte apoptosis, Complete or near-complete absence of specific antibody...	OMIM:607271
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia	OMIM:615863
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia, Pancreatic adenocarcinoma, Recurrent pancreatitis	OMIM:145001
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Increased blood urea nitrogen, Elevated circulating creatinine concen...	OMIM:617872
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Hypocalciuric Hypercalcemia, Familial, Type I	Hypercalcemia, Hypermagnesemia, Pancreatitis	OMIM:145980
Pseudohypoparathyroidism Type 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany	ORPHA:94090
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Thrombocytopenia, Hemolytic anemia	OMIM:615008
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Wiskott-Aldrich Syndrome 2	Recurrent infections, Defective T cell proliferation, Reduced natural killer cell activity, Eczem...	OMIM:614493
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Hypophosphatasia	Hypercalcemia, Anemia	ORPHA:436
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Hypermagnesemia, Pancreatitis	OMIM:145981
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia	ORPHA:88643
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Anemia, Hypercalcemia, Hypophosphatemia, Splenomegaly, Aminoaciduria	OMIM:239200
Refractory Celiac Disease	Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr...	ORPHA:398063
Thymic Neuroendocrine Tumor	Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Chronic nonin...	ORPHA:97289
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con...	OMIM:616050
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Jaundice, Hemophagoc...	OMIM:267700
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hyperbilirubinemia, ...	ORPHA:64743
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, El...	OMIM:308240
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen...	OMIM:616000
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Hyperlipidemia, Anemia	OMIM:603278
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Increased to...	OMIM:618528
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Renal Tubular Acidosis, Distal, 1	Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia	OMIM:179800
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, ...	ORPHA:507
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia	OMIM:617056
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemi...	OMIM:226990
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Uremic Pruritus	Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia	ORPHA:94059
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Immunodeficiency, Common Variable, 2	Recurrent otitis media, Partial absence of specific antibody response to unconjugated pneumococcu...	OMIM:240500
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n...	OMIM:300539
Multiple Myeloma	Anemia, Lymphadenopathy, Hypercalcemia, Splenomegaly, Hyperproteinemia, Elevated circulating crea...	ORPHA:29073
Reticular Dysgenesis	Sepsis, Lack of T cell function, Impaired T cell function	OMIM:267500
Oculoskeletodental Syndrome	Hypocalcemia, Hepatomegaly, Hypercalcemia, Splenomegaly	OMIM:618440
Coach Syndrome 2	Hepatic fibrosis, Elevated circulating creatinine concentration, Portal fibrosis, Congenital hepa...	OMIM:619111
Bare Lymphocyte Syndrome, Type Ii	Recurrent lower respiratory tract infections, Panhypogammaglobulinemia, Cholangitis, Recurrent ur...	OMIM:209920
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Macrophage Activation Syndrome	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,...	ORPHA:158061
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Chylomicron Retention Disease	Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia	OMIM:246700
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Pancreatitis, Hypoalbuminemia, Hepatic steatosis, Microcytic anemia	OMIM:618805
Hemochromatosis, Type 5	Abnormal circulating transferrin concentration, Anemia, Abnormal circulating copper concentration...	OMIM:615517
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia, Hepatic steatosis, Microcytic anemia	OMIM:619013
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia	OMIM:620152
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 23 concentration, Reduced circulating interleukin 22 concentratio...	OMIM:619632
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypertriglyceridemia, Increased circulating ferritin concentration, Impaired lymphocyte transform...	OMIM:619313
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ...	ORPHA:103910
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:146200
Oculoskeletodental Syndrome	Hypocalcemia, Hypercalcemia	ORPHA:557003
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ...	ORPHA:86839
Immunodeficiency, Common Variable, 1	Recurrent otitis media, Recurrent bronchitis, Impaired T cell function, Bronchiectasis, Decreased...	OMIM:607594
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Infantile Myofibromatosis	Neoplasm of the pancreas, Hypercalcemia	ORPHA:2591
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenop...	OMIM:603553
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypercalcemia, Hypermagnesemia, Pancreatitis, Hypophosphatemia	OMIM:600740
Osteopetrosis, Autosomal Recessive 9	Hyperkalemia, Elevated circulating creatinine concentration, Anemia	OMIM:620366
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Pseudohypoparathyroidism, Type Ib	Hypocalcemia, Hyperphosphatemia	OMIM:603233
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva...	OMIM:612924
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia	OMIM:601198
Ornithine Transcarbamylase Deficiency	Hyperammonemia, Aminoaciduria, Splenomegaly	ORPHA:664
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva...	OMIM:612926
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ...	ORPHA:90362
Non-Functioning Paraganglioma	Hypercalcemia	ORPHA:94080
Hypophosphatasia, Infantile	Hypercalcemia, Anemia, Elevated plasma pyrophosphate	OMIM:241500
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Jaundice, Hepatomegaly, Hypokalemia, Elevated circulating alpha-fetoprotein concentration, Hepati...	OMIM:613095
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypocystinemia, Hypohomocysteinemia	OMIM:617744
Paternal Uniparental Disomy Of Chromosome 1	Increased blood urea nitrogen, Hypercalcemia, Episodic hemolytic anemia	ORPHA:251004
Immunodeficiency 43	B lymphocytopenia, Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbumin...	OMIM:241600
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
2P21 Microdeletion Syndrome	Hypocalcemia, Cystinuria	ORPHA:163693
Sickle Cell Anemia	Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Increased mean corpus...	ORPHA:232
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Relapsing Fever	Jaundice, Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased ...	ORPHA:91547
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Microangiopathic hemolytic anemia, Thrombocytopenia, Reticulocytosis	ORPHA:54057
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva...	OMIM:612925
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Alg6-Cdg	Abnormality of the liver, Hypoalbuminemia, Decreased LDL cholesterol concentration, Jaundice	ORPHA:79320
Interstitial Nephritis, Karyomegalic	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:614817
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Anemia, Cholestasis, Thrombocytopenia, Hypoalbuminemia, Elevated circulating creati...	OMIM:608104
Gracile Bone Dysplasia	Hypocalcemia, Hypoplastic spleen, Asplenia	OMIM:602361
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Hypocalcemic seizures, Pancreatitis, Hypercalcemia, Renal hypophosphatemia	ORPHA:405
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Macrocytic anemia, Hyperuricemia, Hyponatremia, Hypercalcemia, Eosinophilia, H...	ORPHA:199299
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Generalized aminoaciduria, Periportal fibrosis, Hyperbilirubinemia, Porta...	OMIM:251880
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent candida infections, Acute otitis media, Recurrent Staphylococcus aureus infections, Pan...	ORPHA:572
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Recurrent otitis media, Increased circulating interleukin 6 concentration, Recurrent lower respir...	OMIM:620430
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Cirrhosis, Increased serum bile acid concentration, Decreased circulating ceruloplasmin concentra...	OMIM:242150
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hypercalcemia, Hyperphosphatemia	OMIM:211900
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia, Hydroxyprolinuria	OMIM:602080
Mpi-Cdg	Hypoalbuminemia, Hepatic fibrosis, Hepatomegaly, Portal hypertension	ORPHA:79319
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Elevat...	ORPHA:247585
Spondyloepiphyseal Dysplasia, Nishimura Type	Hypocalcemia, Hyperphosphatemia	OMIM:618618
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia...	ORPHA:540
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Eosinophilic Gastroenteritis	Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hypoal...	ORPHA:2070
T-Cell Immunodeficiency With Thymic Aplasia	Chronic otitis media, Recurrent Staphylococcus aureus infections, Sinusitis, Opportunistic infect...	ORPHA:83471
Renal Tubular Acidosis, Proximal	Elevated circulating creatinine concentration	OMIM:179830
Congenital Disorder Of Glycosylation, Type Ib	Cirrhosis, Lymphangiectasis, Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis	OMIM:602579
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch...	OMIM:308230
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration	OMIM:616733
Wolcott-Rallison Syndrome	Hepatomegaly, Jaundice, Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Hyperammonemia...	ORPHA:1667
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Hypophosphatemia, Iron deficiency anemia	ORPHA:89937
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Intestinal lymphangiectasia, Anemia, Iron deficiency anemia, Hepatomegaly, Hypoproteinemia, Hypoa...	OMIM:226300
Monosomy 13Q34	Hypercalcemia, Hepatic steatosis	ORPHA:96168
Fanconi Renotubular Syndrome 3	Elevated circulating creatinine concentration, Aminoaciduria	OMIM:615605
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
X-Linked Agammaglobulinemia	Anemia, Hypocalcemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Thrombocyt...	ORPHA:47
Acute Adrenal Insufficiency	Hyperkalemia, Normocytic anemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, ...	ORPHA:95409
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Thrombotic Thrombocytopenic Purpura, Hereditary	Jaundice, Reticulocytosis, Increased blood urea nitrogen, Prolonged neonatal jaundice, Thrombocyt...	OMIM:274150
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalcemia, Hypophosphatemia	OMIM:156400
Spinal Cord Injury	Hypercalcemia	ORPHA:90058
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Abnormal circulating lipid concentration, Peritonitis, Hypoalbuminemia, Hyp...	ORPHA:567548
Preeclampsia	Elevated circulating creatinine concentration, Thrombocytopenia, Abnormality of the hepatic vascu...	ORPHA:275555
Chronic Bilirubin Encephalopathy	Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hemolyt...	ORPHA:529808
Acute Bilirubin Encephalopathy	Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hemolyt...	ORPHA:529799
Generalized Pustular Psoriasis	Elevated circulating C-reactive protein concentration, Hypocalcemia, Leukocytosis, Hyponatremia, ...	ORPHA:247353
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Anemia, Reduced haptoglobin level, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Ele...	OMIM:301110
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Hypocholesterolemia, Hepatomegaly, Splenomegaly	OMIM:608776
Stormorken Syndrome	Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Hypopl...	OMIM:185070
Liver Failure, Infantile, Transient	Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steatosis, Hyper...	OMIM:613070
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany	ORPHA:93324
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Intrahepatic cholestasis, Jaundice, Hyperammonemia, Conjugated hyperbilirubinemia, Decreased seru...	OMIM:617093
Congenital Enterovirus Infection	Anemia, Abnormal macrophage morphology, Cholestasis, Leukocytosis, Hyperammonemia, Leukopenia, Th...	ORPHA:292
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathi...	OMIM:235400
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Hypoalbuminemi...	OMIM:617021
S-Adenosylhomocysteine Hydrolase Deficiency	Abnormal circulating homocysteine concentration, Abnormal circulating methionine concentration, H...	ORPHA:88618
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration	OMIM:620138
Addison Disease	Hyperkalemia, Normocytic anemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, ...	ORPHA:85138
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Reduced hematocrit, Lymphadenopathy, Elevated circ...	ORPHA:79126
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Elevated circulating creatinine concentration, Anemia, Leukocytosis	ORPHA:90060
Galloway-Mowat Syndrome 6	Hypoalbuminemia	OMIM:618347
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Peritonitis	ORPHA:656
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Cirrhosis, Hepatomegaly, Portal hypertension, Hepatosplenomegaly, Hypoalbuminemia	ORPHA:367
Autoimmune Hypoparathyroidism	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany	ORPHA:36913
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia	OMIM:256300
C3 Glomerulopathy	Elevated circulating creatinine concentration	ORPHA:329918
Nephronophthisis 2	Hyperkalemia, Elevated circulating creatinine concentration	OMIM:602088
Hypouricemia, Renal, 1	Hypouricemia, Elevated circulating creatinine concentration	OMIM:220150
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Hepatomegaly, Abnormal lymph node morphology, Lymphadeno...	ORPHA:85450
Alg1-Cdg	Hypoalbuminemia	ORPHA:79327
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia	ORPHA:276621
Ménétrier Disease	Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia	ORPHA:2494
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Albers-Schönberg Osteopetrosis	Hypocalcemia, Abnormal leukocyte morphology, Anemia	ORPHA:53
Adult Acute Respiratory Distress Syndrome	Sepsis, Pancreatitis, Increased circulating interleukin 6 concentration, Abnormal circulating int...	ORPHA:70578
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Anemia, Pancytopenia, Hypocalcemia, Thrombocytopenia, Splenomegaly	OMIM:259700
Congenital Analbuminemia	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia	ORPHA:86816
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Hypocalcemia, Pancreatic lymphangiectasis, Hypoproteinemia, Splenomegaly, Pulmonary...	OMIM:235255
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypocalcemia, Hypomagnesemia, Anemia, Hypokalemia	OMIM:175500
Vipoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Normochromic anemia, Hypokalemi...	ORPHA:97282
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Cirrhosis, Jaundice, Hypertyrosinemia, Microvesicular hepatic steatosis, Hyperbilirubinemia, Chol...	OMIM:617156
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia, Anemia	OMIM:244460
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Elevated circulating creatinine concentration, Hepatomegaly	OMIM:614376
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia	ORPHA:476126
Grfoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Intermittent ja...	ORPHA:97261
Multiple Endocrine Neoplasia, Type I	Pancreatic islet cell adenoma, Hypercalcemia, Insulinoma	OMIM:131100
Pheochromocytoma	Hypercalcemia	OMIM:171300
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Ppoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Intermittent ja...	ORPHA:97278
Avian Influenza	Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce...	ORPHA:454836
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Reduced proportion of CD4-n...	ORPHA:37042
Colchicine Poisoning	Hypokalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal...	ORPHA:31824
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating long chain fatty acid concen...	OMIM:608836
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Increased circulating myelocyte count, Elevated circulating creatine kinase concent...	ORPHA:36234
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Chronic oral candidiasis, Acute otitis media, Skin rash, Lack of T cell function, Partial IgA def...	ORPHA:35078
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Pancreatitis, Hypokalemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemia, Hypona...	ORPHA:90038
Somatostatinoma	Intrahepatic cholestasis, Hepatomegaly, Neoplasm of the pancreas, Gallbladder dysfunction, Hypoch...	ORPHA:97283
Hypotonia-Cystinuria Syndrome	Hypocalcemia, Cystinuria	OMIM:606407
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Hypocalcemia, Pancreatic lymphangiectasis, Hypoproteinemia, Hepatosplenomegaly, Spl...	ORPHA:1655
Reni Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Lymphopenia	OMIM:617575
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Jaundice, Hepatomegaly, Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase conce...	ORPHA:26793
Pseudohypoparathyroidism Type 1B	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany	ORPHA:94089
Hypocalcemic Vitamin D-Dependent Rickets	Hepatomegaly, Hypocalcemic seizures, Generalized aminoaciduria, Hypocalcemia, Leukocytosis, Splen...	ORPHA:289157
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula...	OMIM:601678
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Cirrhosis, Jaundice, Hepatomegaly, Hypercholesterolemia...	ORPHA:186
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Pseudohypoparathyroidism, Type Ic	Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany	OMIM:612462
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Bone marrow hypocellularity, Leukopenia, ...	OMIM:617303
Phoar2-Enteropathy Syndrome	Hypoalbuminemia	OMIM:614441
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia	ORPHA:29072
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Pancreatitis, Hypophosphatemia, Pancreatic adenocarcinoma	ORPHA:99880
Juvenile Polyposis Syndrome	Hypoalbuminemia, Anemia, Hypokalemia	OMIM:174900
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia	OMIM:618183
Genetic Recurrent Myoglobinuria	Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia	ORPHA:99845
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Recurrent otitis media, Abnormality of B cell physiology, Recurrent lower respiratory tract infec...	OMIM:600802
Trichohepatoenteric Syndrome 1	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of iron homeostasis, Hypermethioninemia, Cholestas...	OMIM:222470
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia	ORPHA:369837
Parathyroid Carcinoma	Hypercalcemia, Pancreatitis, Hypophosphatemia, Pancreatic adenocarcinoma	ORPHA:143
Glucagonoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Normochromic anemia, Intermitte...	ORPHA:97280
Fibrous Dysplasia Of Bone	Hypercalcemia, Hypophosphatemia	ORPHA:249
Juvenile Nephropathic Cystinosis	Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophosphatemia, Hypocalcemic tetany, Ele...	ORPHA:411634
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Hypokalemia, Hypocalcemia, Hyponatremia, Splenomegaly, Aminoaciduria	OMIM:617913
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration, Anemia	OMIM:266900
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Decreased HDL cholesterol concentration, Iron deficiency anemia, Hypo...	OMIM:618885
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypocalcemia, Hyperbilirubinem...	OMIM:259720
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia, Generalized aminoaciduria	OMIM:264700
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen	ORPHA:89844
Neuroleptic Malignant Syndrome	Hyperkalemia, Hyperuricemia, Hypocalcemia, Leukocytosis, Elevated circulating creatine kinase con...	ORPHA:94093
Mirage Syndrome	Hyperkalemia, Anemia, Hyponatremia, Hypoplastic spleen, Thrombocytopenia, Leukopenia, Lymphopenia	OMIM:617053
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Anemia, Acute pancreatitis, Portal hypertension, Hepatosplenomegaly, Hypoalbuminemi...	OMIM:619487
Multiple Endocrine Neoplasia Type 4	Abnormality of pancreas physiology, Insulinoma, Hypercalcemia, Thymoma, Extrahepatic cholestasis	ORPHA:276152
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Normochromic anemia, Abnormality of the hepatic vasculature, Nodular regenerat...	ORPHA:247691
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Liver abscess, Anemia, Leukocytosis	ORPHA:67
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent abscess formation, Abnormal circulating interferon-gamma concentration, Recurrent respi...	ORPHA:79124
Wilson Disease	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Anemia, Decreased circulating ceruloplasmin c...	OMIM:277900
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:241410
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Anemia, Hyperuricemia	OMIM:174000
Multiple Endocrine Neoplasia Type 2	Neoplasm of the liver, Hypercalcemia, Cervical lymphadenopathy	ORPHA:653
Pearson Syndrome	Hepatomegaly, Anemia, Hypokalemia, Pancytopenia, Hypocalcemia, Hyperalaninemia, Reticulocytosis, ...	ORPHA:699
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hyperbilirubinemia, Elevated circulating creatinine concentration	ORPHA:542323
Double Outlet Right Ventricle	Aplasia/Hypoplasia of the thymus, Hypocalcemia	ORPHA:3426
Zollinger-Ellison Syndrome	Jaundice, Hypercalcemia, Extrahepatic cholestasis	ORPHA:913
Timothy Syndrome	Hypocalcemia	OMIM:601005
Kenny-Caffey Syndrome, Type 2	Hypocalcemia, Hyperphosphatemia, Anemia, Transient hypophosphatemia	OMIM:127000
Dopamine Beta-Hydroxylase Deficiency	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Anemia	ORPHA:230
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Macrovesicular hepatic steatosis, Hyperalaninemia, Bile duct proliferation	OMIM:618329
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Anemia, Decreased circulating carnitine concentration, Decreased circulating iron concentration, ...	ORPHA:89842
Abetalipoproteinemia	Cirrhosis, Hepatomegaly, Anemia, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Hy...	ORPHA:14
Primary Sclerosing Cholangitis	Cirrhosis, Jaundice, Abnormal biliary tract morphology, Pancreatitis, Cholelithiasis, Hepatomegal...	ORPHA:171
Oligoarticular Juvenile Idiopathic Arthritis	Increased circulating interferon-gamma concentration, Knee osteoarthritis, Arthritis, Rheumatoid ...	ORPHA:85410
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
46,Xy Sex Reversal 4	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:154230
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Intestinal lymphangiectasia, Pleural lymphangiectasia, Pulmonary ly...	OMIM:235510
Marburg Hemorrhagic Fever	Jaundice, Pancreatitis, Lymphadenopathy, Hypokalemia, Neutrophilia in presence of infection, Abno...	ORPHA:99826
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:93160
Al Amyloidosis	Hepatomegaly, Anemia, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnorma...	ORPHA:85443
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Arthritis, Symmetric polyarthritis, Abnormal circulating interleukin concentration, Synovitis	ORPHA:85435
Sarcoidosis	Abnormal liver parenchyma morphology, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node ...	ORPHA:797
Sweet Syndrome	Panniculitis, Increased circulating interleukin 6 concentration, Recurrent infections, Myositis, ...	ORPHA:3243
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia, Hypoalbuminemia	OMIM:615508
Aapoaiv Amyloidosis	Elevated circulating creatinine concentration, Hyperlipidemia	ORPHA:439232
Autosomal Dominant Polycystic Kidney Disease	Hepatic cysts, Elevated circulating creatinine concentration, Pancreatic cysts, Polycystic liver ...	ORPHA:730
Cholera	Abnormal blood ion concentration, Hyponatremia, Hypokalemia, Hypocalcemia	ORPHA:173
Ciliary Dyskinesia, Primary, 53	Hypoplastic spleen, Polysplenia, Abdominal situs inversus	OMIM:620642
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemia, Hepatic calcification, Hypomagnesemia, Hypocalcemic tetany	ORPHA:73224
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:223900
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Hepatic fibrosis, Hypoalbuminemia, Hypocholesterolemia, Thrombocytosis, Hepatic ste...	OMIM:212065
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Thrombocytopenia, Normochromic anemia	OMIM:254900
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Mitochondrial Trifunctional Protein Deficiency	Hypocalcemia, Cholestasis, Diffuse hepatic steatosis	ORPHA:746
Igg4-Related Thyroid Disease	Hypocalcemia, Pancreatic fibrosis, Retroperitoneal fibrosis, Sclerosing cholangitis	ORPHA:64744
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Aminoaciduria, Elevated circulating creatine kinase concentration	OMIM:619055
Multiple Endocrine Neoplasia Type 1	Insulinoma, Neoplasm of the pancreas, Hypercalcemia, Thymoma	ORPHA:652
Celiac Disease, Susceptibility To, 1	Hypocalcemia, Thrombocytosis, Iron deficiency anemia, Macrocytic anemia	OMIM:212750
Igg4-Related Retroperitoneal Fibrosis	Increased blood urea nitrogen, Normocytic anemia, Elevated circulating creatinine concentration, ...	ORPHA:49041
Immunodeficiency 82 With Systemic Inflammation	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, B lymphocytopenia...	OMIM:619381
Sanjad-Sakati Syndrome	Hypocalcemia, Hyperphosphatemia	ORPHA:2323
Liver Disease, Severe Congenital	Lymphocytosis, Hypoproteinemia, Biliary hyperplasia, Hyperammonemia, Leukopenia, Splenomegaly, He...	OMIM:619991
Igg4-Related Kidney Disease	Pancreatitis, Lymphadenopathy, Sclerosing cholangitis, Elevated circulating C-reactive protein co...	ORPHA:449395
Secondary Intestinal Lymphangiectasia	Cirrhosis, Decreased circulating prealbumin concentration, Lymphopenia, Reduced circulating trans...	ORPHA:90363
Alg12-Cdg	B lymphocytopenia, Hyponatremia, Thrombocytopenia, Hypoalbuminemia, Hypocholesterolemia	ORPHA:79324
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Hepatosplenomegaly, Hypoalbumi...	ORPHA:505248
Congenital Disorder Of Glycosylation, Type Ig	Hypocalcemia	OMIM:607143
Hypomagnesemia 3, Renal	Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentration, Hyperuric...	OMIM:248250
Rajab Interstitial Lung Disease With Brain Calcifications 1	Cirrhosis, Anemia, Pancytopenia, Hypocalcemia, Cholestasis, Portal hypertension, Bile duct prolif...	OMIM:613658
Hennekam Syndrome	Lymphadenopathy, Hypocalcemia, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia, Lymphopenia	ORPHA:2136
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Hypotriglyceridemia, Biliary cirrhosis, Thrombocytopeni...	ORPHA:2298
Autosomal Dominant Hypocalcemia	Hypocalcemia, Hyperphosphatemia, Hypomagnesemia	ORPHA:428
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hypocalcemia	OMIM:618476
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Hypophosphatemia, Splenomegaly	ORPHA:667
Pseudohypoparathyroidism Type 1C	Calcinosis, Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia	ORPHA:79444
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Anemia, Pancytopenia, Hypocalcemia, Elevated circulating creatine kinase concentrat...	ORPHA:2785
Renal Cysts And Diabetes Syndrome	Hyperuricemia, Pancreatic hypoplasia, Biliary tract abnormality, Pancreatic atrophy, Exocrine pan...	OMIM:137920
Williams Syndrome	Abnormal circulating lipid concentration, Hypercalcemia, Elevated circulating creatine kinase con...	ORPHA:904
Cardiogenic Shock	Elevated circulating creatinine concentration, Hepatomegaly	ORPHA:97292
Papillorenal Syndrome	Elevated circulating creatinine concentration	OMIM:120330
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Hyperlipidemia	ORPHA:567546
Autoimmune Lymphoproliferative Syndrome	Increased circulating antibody level, Bone marrow hypocellularity, Recurrent aphthous stomatitis,...	ORPHA:3261
Kawasaki Disease	Cervical lymphadenopathy, Jaundice, Elevated circulating C-reactive protein concentration, Leukoc...	ORPHA:2331
Xfe Progeroid Syndrome	Hypoalbuminemia	OMIM:610965
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Elevated circulating creatinine concentration, Anemia, Leukocytosis, Thrombocytopen...	ORPHA:340
Oligomeganephronia	Elevated circulating creatinine concentration	ORPHA:2260
Galloway-Mowat Syndrome 3	Hypoalbuminemia	OMIM:617729
Yellow Fever	Jaundice, Hyperbilirubinemia, Acute pancreatitis, Leukocytosis, Elevated circulating creatine kin...	ORPHA:99829
Cartilage-Hair Hypoplasia	Hepatomegaly, Anemia, Hypocalcemia, Abnormality of the pancreas, Neutropenia	ORPHA:175
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Hypocalcemia, Hyperbilirubinemia, Thrombocytopenia, Absent gallbladder	ORPHA:163979
Pauci-Immune Glomerulonephritis	Elevated circulating creatinine concentration, Pancreatitis	ORPHA:93126
Pseudohypoparathyroidism, Type Ia	Hyperphosphatemia, Hypocalcemic tetany	OMIM:103580
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration	OMIM:617478
Infection-Related Hemolytic Uremic Syndrome	Hyperkalemia, Pancreatitis, Hypocalcemia, Leukocytosis, Hyponatremia, Thrombocytopenia, Hemolytic...	ORPHA:544482
Pseudohypoparathyroidism Type 1A	Calcinosis, Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia	ORPHA:79443
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Anemia	ORPHA:79396
New-Onset Refractory Status Epilepticus	Abnormal circulating interleukin concentration, Infectious encephalitis	ORPHA:363558
Juvenile Polyposis Of Infancy	Hypoalbuminemia, Refractory anemia, Anemia	ORPHA:79076
Galloway-Mowat Syndrome 1	Hypoalbuminemia	OMIM:251300
Ethylene Glycol Poisoning	Hypocalcemia, Hyperkalemia	ORPHA:31826
Exercise-Induced Malignant Hyperthermia	Hyperkalemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytopenia,...	ORPHA:466650
Craniofacioskeletal Syndrome	Absent gallbladder, Hypocalcemia	OMIM:300712
Williams-Beuren Syndrome	Hypercalcemia, Portal hypertension	OMIM:194050
Biliary, Renal, Neurologic, And Skeletal Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating creatinine concentration, Hyperbilirubine...	OMIM:619534
Microphthalmia, Syndromic 9	Multilobulated spleen, Hypoplastic spleen	OMIM:601186
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating 7-dehydrocholesterol con...	OMIM:270400
Gitelman Syndrome	Hypermagnesemia, Neoplasm of the pancreas, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hyp...	ORPHA:358
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Cranioectodermal Dysplasia 1	Hepatomegaly, Hypocalcemia, Hepatic cysts, Hepatic fibrosis, Malformation of the hepatic ductal p...	OMIM:218330
Sotos Syndrome	Prolonged neonatal jaundice, Acute lymphoblastic leukemia, Hypercalcemia	ORPHA:821
Velocardiofacial Syndrome	Hypocalcemia	OMIM:192430
22Q11.2 Deletion Syndrome	Cholelithiasis, Hypocalcemia, Abnormality of the tonsils, Hypoplasia of the thymus, Thrombocytope...	ORPHA:567
Autosomal Dominant Kenny-Caffey Syndrome	Hyperphosphatemia, Hypocalcemic seizures, Anemia, Hypocalcemic tetany	ORPHA:93325
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Reduced hematocrit, Elevated circulating C-reactive protein concentration, Nor...	ORPHA:91500
Digeorge Syndrome	Anemia, Cholelithiasis, Hypocalcemia, Hypoplasia of the thymus, Thrombocytopenia, Splenomegaly, A...	OMIM:188400
Intrahepatic Cholestasis Of Pregnancy	Abnormal circulating interleukin concentration, Cholecystitis	ORPHA:69665
Tropical Endomyocardial Fibrosis	Eosinophilia, Hepatomegaly, Hypoalbuminemia, Splenomegaly	ORPHA:75565
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hypocalcemia, Cholestasis, Portal hypertension, Hepatosplenomegaly, Hypomagnesemia, Hepatic steat...	OMIM:619503
Aregenerative Anemia	Bone marrow hypocellularity, Abnormal circulating interleukin concentration	ORPHA:101096
Johanson-Blizzard Syndrome	Intrahepatic cholestasis, Hepatomegaly, Hypocalcemia, Portal hypertension, Increased VLDL cholest...	OMIM:243800
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hypocalcemia	OMIM:620330
Charge Syndrome	Aplasia/Hypoplasia of the thymus, Hypocalcemia, Lymphopenia	OMIM:214800
Pmm2-Cdg	Abnormal liver parenchyma morphology, Reduced thyroxin-binding globulin, Impaired neutrophil chem...	ORPHA:79318
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome		OMIM:618877
Early-Onset Generalized Limb-Onset Dystonia		ORPHA:256
Dystonia 33		OMIM:619687

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Eif2ak2

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Eif2ak2.

No publications found that use IMPC mice or data for Eif2ak2.

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MGI Allele	Allele Type	Produced
Eif2ak2^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Eif2ak2^{tm284228(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Eif2ak2^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Eif2ak2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Eif2ak2 MGI:1353449

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Eif2ak2 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data